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| Variant ID | 100 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22047126del |
| Variant | c.264del |
| Variant Start Position | 264 |
| Location | Exon 3 |
| Amino Acid Change | p.Trp88* |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | Small deletion |
| PMID | 23813354, 21293852, 18046499, 24857004, 34806794 |
| Article Count | 5 |
| Times Observed | 3-5 |
| Clinical Phenotype | - |
| ACMG Categories | pvs1, pm2, pp1 |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22065244 ref:G alt:A was not found in gnomAD exomes or genomes. chrX:22065243 ref:G alt:A was not found in gnomAD exomes or genomes. chrX:22065242 ref:TG alt:T was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | pp1 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22065242-TG-T |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22065244-G-A X-22065243-G-A |
| Other Alleles | X-22065243-GG-AA |
| Note | nan |
| Warnings | - |